rs121913223
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs121913223(A;T) |
| Make rs121913223(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 80633904 |
| Gene | DHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913223 |
| dbSNP (classic) | rs121913223 |
| ClinGen | rs121913223 |
| ebi | rs121913223 |
| HLI | rs121913223 |
| Exac | rs121913223 |
| Gnomad | rs121913223 |
| Varsome | rs121913223 |
| LitVar | rs121913223 |
| Map | rs121913223 |
| PheGenI | rs121913223 |
| Biobank | rs121913223 |
| 1000 genomes | rs121913223 |
| hgdp | rs121913223 |
| ensembl | rs121913223 |
| geneview | rs121913223 |
| scholar | rs121913223 |
| rs121913223 | |
| pharmgkb | rs121913223 |
| gwascentral | rs121913223 |
| openSNP | rs121913223 |
| 23andMe | rs121913223 |
| SNPshot | rs121913223 |
| SNPdbe | rs121913223 |
| MSV3d | rs121913223 |
| GWAS Ctlg | rs121913223 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121913223(T;T) |
| Alt | rs121913223(T;T) |
| Reference | Rs121913223(A;A) |
| Significance | Pathogenic |
| Disease | Megaloblastic anemia due to dihydrofolate reductase deficiency |
| Variation | info |
| Gene | DHFR |
| CLNDBN | Megaloblastic anemia due to dihydrofolate reductase deficiency |
| Reversed | 1 |
| HGVS | NC_000005.9:g.79929723T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022525.25, |
[PMID 1060915] Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.
[PMID 1099447] Inborn errors of folate metabolism (first of two parts).
[PMID 6700662] Hereditary abnormal transcobalamin II previously diagnosed as congenital dihydrofolate reductase deficiency.
